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Test Code NGENZ Red Blood Cell Enzyme Sequencing, Varies

Useful For

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying RBC enzymopathy

 

Identifying mutations within genes associated with phenotypic severity, allowing for predictive testing and further genetic counseling

Method Name

Hereditary Mutation Detection by Next-Generation Sequencing (NGS)

Reporting Name

RBC Enzyme Sequencing, V

Specimen Type

Varies

Specimen Required

Submit only 1 of the following specimens:

 

Specimen Type: Peripheral blood (preferred)

Container/Tube:

Preferred: Lavender top (EDTA) or Yellow top or (ACD)

Acceptable: Green top (heparin)

Specimen Volume: 3 mL

Specimen Stability: Refrigerated ≤30 days

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood

 

Specimen Type: Extracted DNA

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA.

Specimen Volume: Entire specimen

Specimen Stability: Frozen/Refrigerated/Ambient ≤30 days

Collection Instructions: Label specimen as extracted DNA and source of specimen.

Specimen Minimum Volume

Blood, Bone Marrow: 1 mL/Extracted DNA: 100 mcL at 20 ng/mcL concentration

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Wednesday

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81350 – UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (e.g., irinotecan metabolism), gene analysis, common variants (e.g., *28, *36, *37)

81404 – Molecular pathology procedure, Level 5 (e.g., analysis of 2-5 exons by DNA sequence analysis, mutation scanning or duplication/deletion variants of 6-10 exons, or characterization of a dynamic mutation disorder/triplet repeat by Southern blot analysis)

81479 – Unlisted molecular pathology procedure

LOINC Code Information

Test ID Test Order Name Order LOINC Value
NGENZ RBC Enzyme Sequencing, V In Process

 

Result ID Test Result Name Result LOINC Value
NGENS Specimen Type In Process
NGEND Indication for Test In Process
40560 Alterations Detected In Process
40561 Interpretation In Process
40562 Additional Notes 48767-8
40563 Method Summary In Process
40564 Disclaimer In Process
40566 Panel Gene List In Process
40567 Reviewed By In Process

Forms

1. Hemolytic Anemia Patient Information Form (T705)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

Hematopathology/Cytogenetics Test Request Form (T726) (http://www.mayomedicallaboratories.com/it-mmfiles/hematopathology-request-form.pdf)

Benign Hematology Test Request Form (T755) (http://www.mayomedicallaboratories.com/it-mmfiles/benign-hematology-test-request-form.pdf

Necessary Information

The following information is required on patient information or test request form:

1. Clinical diagnosis

2. Pertinent clinical history

3. Differentials based on clinical or morphologic presentation

4. Date of collection

5. Specimen type, whole blood or extracted DNA

Shipping Instructions

Peripheral blood specimens must arrive within 30 days of collection.